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104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
Schoser B, Kishnani PS, Bratkovic D, Byrne BJ, Claeys KG, Díaz-Manera J, Laforêt P, Roberts M, Toscano A, van der Ploeg AT, Castelli J, Goldman M, Holdbrook F, Sitaraman Das S, Wasfi Y, Mozaffar T; ATB200-07 Study Group. Schoser B, et al. J Neurol. 2024 May;271(5):2810-2823. doi: 10.1007/s00415-024-12236-0. Epub 2024 Feb 28. J Neurol. 2024. PMID: 38418563 Free PMC article. Clinical Trial.
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.
Barretta F, Uomo F, Fecarotta S, Albano L, Crisci D, Verde A, Fisco MG, Gallo G, Dottore Stagna D, Pricolo MR, Alagia M, Terrone G, Rossi A, Parenti G, Ruoppolo M, Mazzaccara C, Frisso G. Barretta F, et al. Among authors: fecarotta s. Genes (Basel). 2023 Apr 26;14(5):980. doi: 10.3390/genes14050980. Genes (Basel). 2023. PMID: 37239340 Free PMC article.
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
Sambri I, Ferniani M, Campostrini G, Testa M, Meraviglia V, de Araujo MEG, Dokládal L, Vilardo C, Monfregola J, Zampelli N, Vecchio Blanco FD, Torella A, Ruosi C, Fecarotta S, Parenti G, Staiano L, Bellin M, Huber LA, De Virgilio C, Trepiccione F, Nigro V, Ballabio A. Sambri I, et al. Among authors: fecarotta s. Nat Commun. 2023 May 15;14(1):2775. doi: 10.1038/s41467-023-38428-2. Nat Commun. 2023. PMID: 37188688 Free PMC article.
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.
Scarpa M, Barbato A, Bisconti A, Burlina A, Concolino D, Deodato F, Di Rocco M, Dionisi-Vici C, Donati MA, Fecarotta S, Fiumara A, Galeone C, Giona F, Giuffrida G, Manna R, Mariani P, Pession A, Scopinaro A, Spada M, Spandonaro F, Trifirò G, Carubbi F, Cappellini MD. Scarpa M, et al. Among authors: fecarotta s. Intern Emerg Med. 2023 Apr;18(3):831-842. doi: 10.1007/s11739-023-03238-3. Epub 2023 Mar 7. Intern Emerg Med. 2023. PMID: 36882619
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.
Rossi A, Turturo M, Albano L, Fecarotta S, Barretta F, Crisci D, Gallo G, Perfetto R, Uomo F, Vallone F, Villani G, Strisciuglio P, Parenti G, Frisso G, Ruoppolo M. Rossi A, et al. Among authors: fecarotta s. Front Pediatr. 2022 Sep 6;10:895921. doi: 10.3389/fped.2022.895921. eCollection 2022. Front Pediatr. 2022. PMID: 36147814 Free PMC article.
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell'Anno M, Graziano M, Alliegro M, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli F, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Gargaro M, Funghini S, Tedesco N, Le Brun PR, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Danos O, Marteau JB, Galimberti S, Valsecchi MG, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri HS, Auricchio A. Brunetti-Pierri N, et al. Among authors: fecarotta s. NEJM Evid. 2022 Jul;1(7):EVIDoa2200052. doi: 10.1056/EVIDoa2200052. Epub 2022 Jun 6. NEJM Evid. 2022. PMID: 38319253
51 results